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Article

[May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease].

Rinsho byori. The Japanese journal of clinical pathology - 1 Jan 2009

Kunishima Shinji

Abstract excerpt

May-Hegglin anomaly(MHA) is the prototype of the autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies/MYH9 disorders that result from mutations in MYH9, the gene for nonmuscle myosin heavy chain-IIA(NMMHC-IIA). Others include Sebastian(SBS), Fechtner(FTNS), and Epstein (EPS) s...

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Source

Identifiers

PMID: 19227191

Genes

MYH9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19227191-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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[May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease].PMID 19227191Read ↗

[May-Hegglin anomaly--from genome research to clinical laboratory].Semantic proximity Read ↗

Historical hematology: May–Hegglin anomalySemantic proximity Read ↗

[Clinical and molecular-biological study of a May-Hegglin anomaly family].Semantic proximity Read ↗

MYH-9 Related Platelet Disorders: Strategies for Management and DiagnosisSemantic proximity Read ↗

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.Semantic proximity Read ↗

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.Semantic proximity Read ↗

[A non-familial May-Hegglin anomaly accompanying with MYH9 gene R1933X mutation and I1626V polymorphism].Semantic proximity Read ↗

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Semantic proximity Read ↗

MYH9-Related Platelet DisordersSemantic proximity Read ↗

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.Semantic proximity Read ↗

Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.Semantic proximity Read ↗

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.Semantic proximity Read ↗

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